Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder characterized by recurrent episodes of fever and inflammation of lungs, abdomen, and joints. Occasionally, other organs like heart, membrane enveloping the brain and spinal cord, and testicles of the males are affected.

As the name indicates, this disorder is commonly seen in people of Mediterranean origin (Sephardic Jews, Turks, Arabs, and Armenians) and less common in the population of other ethnic groups. The initial attack of FMF is seen in early childhood or during teenage, and infrequently seen in later stages of life.

Signs and symptoms

The Mediterranean fever symptoms usually occur during childhood and they occur as attacks or bouts that last for one to three days. Signs and symptoms include:

  • Fever
  • Pain in the abdomen, joints, chest, and muscles
  • A red rash on the lower limbs, especially around the knee or ankle
  • Painful scrotum
  • Deposits of an abnormal protein (amyloidosis) can also occur in organs such as kidneys, liver, thyroid gland, heart.

Causes

FMF is a familial genetic disease, caused by an abnormality in the MEFV (Mediterranean fever) gene. Parents having this abnormal gene can inherit it to their progeny, and hence the offspring is born with the illness. For a child to acquire FMF, he/she should inherit two abnormal copies of the gene - one from each parent.

Abnormal MEFV gene reduces the activity of pyrin – a protein responsible for controlling inflammation in the body. Derangement of pyrin causes uncontrolled inflammation, leading to fever and pain in the affected areas.

Risk factors

Having any one of the following may increase your risk of developing FMF.

  • Descendent of Mediterranean region
  • Family history of the disease

Complications

In the long run, patients with FMF can develop arthritis, renal failure, and infertility in women, as abnormal clusters of protein accumulates in various body tissues.

Diagnosis

FMF is diagnosed by genetic testing/ DNA test. But, the need for diagnosis is felt only if the person has periodic episodes of fever associated with severe abdominal pain, and/or chest pain, and/or joint pain lasting for more than 2 days.

However, few laboratory findings such as increase in the number of white blood cells, high Erythrocyte Sedimentation Rate (ESR), and elevated serum levels of fibrinogen are characteristics of FMF.

Treatment

FMF is incurable. But few mediterranean fever treatment options can prevent signs and symptoms.

Prophylaxis (prevention) of FMF is done by taking colchicine. Regular consumption reduces recurrence of fever and other symptoms.

However, an already started episode of FMF can be managed by taking pain relievers such as paracetamol or dipyrone for controlling pain and discomfort.

Evaluation of close-ones

Irrespective of the symptoms, all the first-degree relatives of the patient should take genetic testing, to detect the presence of p.Met694Val allele. The presence of mutant form of this gene may result in amyloidosis. For such individuals, colchicine can be given as it prevents renal amyloidosis.